Sugi Variant

Sugi Variant/UNC45A

UNC45A — 692 ClinVar variants

All ClinVar germline UNC45A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 306 flagged for review →

7 Pathogenic · 6 Likely pathogenic · 10 Conflicting · 24 Benign · 3 Benign/Likely benign · 297 Likely benign · 345 Uncertain significance

Full UNC45A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 306

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 228

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 228

Predictors split 73

The independent predictors disagree with each other — read with care.

All UNC45A variants

Pathogenic 7

  • p.Ala838Pro No assertion criteria osteootohepatoenteric syndrome
  • p.Arg277Ter No assertion criteria osteootohepatoenteric syndrome
  • p.Asp484fs No assertion criteria osteootohepatoenteric syndrome
  • p.Gln876Ter No assertion criteria osteootohepatoenteric syndrome
  • p.Glu728Lys No assertion criteria osteootohepatoenteric syndrome ⚠
  • p.Gly343Val No assertion criteria osteootohepatoenteric syndrome
  • p.Thr230Arg No assertion criteria osteootohepatoenteric syndrome

Likely pathogenic 6

Conflicting classifications of pathogenicity 10

Benign 24

Benign/Likely benign 3

Likely benign 297

Uncertain significance 345

Showing the top 300 by review status; the full set is in the sitemap.